Linked Data
ClinVar Variation Id:
15759
ClinVar RCV Id:
RCV001811177
dbSNP Id:
rs33911106
gnomAD v4:
16-177105-A-C
PubMed:
PMID:5129592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177105A>C , CM000678.2:g.177105A>C | GRCh38 |
| NC_000016.9:g.227104A>C , CM000678.1:g.227104A>C | GRCh37 |
| NC_000016.8:g.167104A>C | NCBI36 |
| NG_000006.1:g.37968A>C | |
| NG_059186.1:g.5455A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.272A>C MANE Select | ENSP00000322421.5:p.Lys91Thr | |
| ENST00000397797.1:c.176A>C | ENSP00000380899.1:p.Lys59Thr | |
| ENST00000472694.1:n.408A>C | ||
| ENST00000487791.1:n.241A>C | ||
| NM_000558.4:c.272A>C | NP_000549.1:p.Lys91Thr | |
| NM_000558.5:c.272A>C MANE Select | NP_000549.1:p.Lys91Thr |